Search Results
Research at NHGRI
NHGRI center focused on computationally intensive approaches to analyze large-scale genomic data and identifying genetic contributions to human disease.
… The Center for Genomics and Data Science Research focuses on the development … focus on identifying genetic contributions to human disease. … genome and uncover genomic associations with health and disease. Members of the center perform research at the … genomes of thousands of species and opening new avenues for studying genomic function and disease. Their efforts in …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… The National Human Genome Research Institute funded the Centers for Mendelian Genomics (CMG) in 2011 with the charge to discover as many … approaches. This knowledge can also lend insight into the common or more complex phenotypes that involve similar genes, … Please visit the Center links above to seek opportunities for collaboration. …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Genomic variants that cause common periodic fever have spread in Mediterranean … FMF-causing genomic variants have been positively selected for in Mediterranean populations over centuries. The findings … like the plague, is an ancient disease. It is the most common periodic fever syndrome, and symptoms of FMF include …
News Release
eMERGE Network will support multiple clinical sites and a coordinating center with $75 million over five years.
… the provision of $75 million in funding over five years for the Electronic Medical Records and Genomics (eMERGE) … sites specifically focused on better understanding disease risk and susceptibility by combining genomic and … risk-assessment and management methods for a number of common diseases. Approximately half of the clinical sites …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… The investigators in the Center for Precision Health Research (CPHR) develop and evaluate … to improve the diagnosis, treatment and prevention of disease to foster next-generation healthcare. … The Center for Precision Health Research (CPHR) (formerly the Medical …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… Mooney, Ph.D. , will become the director of NIH’s Center for Information Technology (CIT). In this role, Sean will … NIH’s data ecosystem, something of critical importance for genomics. In addition, Sean’s own research group will be … duration of neural plasticity in human development is key for how humans differ from other animals.  This research was …
The Genomics Landscape
In the January 2018 edition of The Genomics Landscape, NHGRI Director Eric Green features the NIH Intramural Sequencing Center.
…  and Nature . While Science's  Breakthrough of the Year for 2017  is the cosmic merger of two neutron stars, the runners-up include three relevant to genomics: " pinpoint gene editing ," " a cancer drug's broad … bonanza." Truly outstanding genomic accomplishments for 2017 - now let's see what 2018 brings us! All the best, …
Research Funding
Funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers.
… The Genome Sequencing Program Analysis Centers (GSPACs) were funded in 2016 to harmonize, access, and analyze the data produced by the sequencing centers. The GSPACs undertake novel, investigator-initiated … data and develop methods to discover variants underlying common, complex, and Mendelian diseases. …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… Genomics is ending diagnostic odysseys for patients with rare … one specialist to another trying to find the root cause for their family member's rare disorder. It is difficult to … brought to many of these patients and families, not just for themselves but eventually for other affected families who …
Training, Diversity and Health Equity Office (TiDHE)
The Centers for Genome Research Consortium aims to support the development of innovative genomic research projects through infrastructure building and the formation of interdisciplinary research teams at institutions that have not recently received significant funding from NIH.
… Current Centers  … The Centers for Genome Research Consortium aims to support the … funding from NIH and who have not participated in genomics research. These Centers will increase the genomics research capacity of these … The objectives of the Centers for Genome Research Consortium are to carry out …